Marfanoid habitus with autosomal recessive intellectual disability syndrome   733062000

SNOMED CT code


SNOMED code733062000
nameMarfanoid habitus with autosomal recessive intellectual disability syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)
synonyms
  • Marfanoid habitus with autosomal recessive intellectual disability syndrome
  • Marfanoid habitus, intellectual disability autosomal recessive
attributes - group1
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group2
InterpretsPhysique type   248295007
parents
  • Intellectual disability   110359009
  • Marfanoid physique   248298009
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Marfanoid habitus with autosomal recessive intellectual disability syndrome   733062000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general observation of appearance   301305006
      Physique finding   366209005
        Marfanoid physique   248298009
          Marfanoid habitus with autosomal recessive intellectual disability syndrome   733062000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Marfanoid habitus with autosomal recessive intellectual disability syndrome   733062000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Marfanoid habitus with autosomal recessive intellectual disability syndrome   733062000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Marfanoid habitus with autosomal recessive intellectual disability syndrome   733062000

ancestors
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